An Adult-Onset Chronic Granulomatous Disease Case with Hemophagocytic Lymphohistiocytosis Caused by Burkholderia and Aspergillus Infections.

Infectious diseases & clinical microbiology Pub Date : 2024-12-19 eCollection Date: 2024-12-01 DOI:10.36519/idcm.2024.381

Yunus Kaygusuz, Ceren Üstün, Ahmet Görkem Er, Zehranur Kiki, İsmail Yaz, Sevda Tüten-Dal, Ayşegül Üner, Deniz Çağdaş, Ahmet Çağkan İnkaya, Murat Akova

{"title":"An Adult-Onset Chronic Granulomatous Disease Case with Hemophagocytic Lymphohistiocytosis Caused by Burkholderia and Aspergillus Infections.","authors":"Yunus Kaygusuz, Ceren Üstün, Ahmet Görkem Er, Zehranur Kiki, İsmail Yaz, Sevda Tüten-Dal, Ayşegül Üner, Deniz Çağdaş, Ahmet Çağkan İnkaya, Murat Akova","doi":"10.36519/idcm.2024.381","DOIUrl":null,"url":null,"abstract":"Chronic granulomatous disease (CGD) is a congenital disorder impairing phagocyte function, causing recurrent, life-threatening infections, and is rarely seen in adulthood. We present a 36-year-old male initially diagnosed with pneumonia. Bronchoalveolar lavage and blood cultures yielded Burkholderia multivorans/cepacia complex, sputum cultures Aspergillus niger. Despite the antimicrobial treatment, his condition deteriorated. His clinical and laboratory findings indicated hemophagocytic lymphohistiocytosis. He responded to steroids. Nitroblue tetrazolium and dihydroergotamine-123 tests confirmed CGD. Whole exome sequencing identified NCF1 deletion. He received interferon-gamma, voriconazole, and trimethoprim-sulfamethoxazole. Allogeneic hematopoietic stem cell transplantation was planned. This case report improves understanding of CGD in adults, aiming to enhance diagnostic and therapeutic strategies.","PeriodicalId":519881,"journal":{"name":"Infectious diseases & clinical microbiology","volume":"6 4","pages":"334-338"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11687228/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Infectious diseases & clinical microbiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.36519/idcm.2024.381","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 0

Abstract

Chronic granulomatous disease (CGD) is a congenital disorder impairing phagocyte function, causing recurrent, life-threatening infections, and is rarely seen in adulthood. We present a 36-year-old male initially diagnosed with pneumonia. Bronchoalveolar lavage and blood cultures yielded Burkholderia multivorans/cepacia complex, sputum cultures Aspergillus niger. Despite the antimicrobial treatment, his condition deteriorated. His clinical and laboratory findings indicated hemophagocytic lymphohistiocytosis. He responded to steroids. Nitroblue tetrazolium and dihydroergotamine-123 tests confirmed CGD. Whole exome sequencing identified NCF1 deletion. He received interferon-gamma, voriconazole, and trimethoprim-sulfamethoxazole. Allogeneic hematopoietic stem cell transplantation was planned. This case report improves understanding of CGD in adults, aiming to enhance diagnostic and therapeutic strategies.

查看原文本刊更多论文

由伯克霍尔德氏菌和曲霉菌感染引起的伴有嗜血细胞淋巴组织细胞增多症的成人慢性肉芽肿病病例

慢性肉芽肿病（CGD）是一种损害吞噬细胞功能的先天性疾病，引起复发性、危及生命的感染，在成年期很少见。我们报告一位36岁男性，最初诊断为肺炎。支气管肺泡灌洗和血液培养产生多角伯克氏菌/洋葱菌复合体，痰培养产生黑曲霉。尽管进行了抗菌治疗，他的病情还是恶化了。他的临床和实验室表现为噬血细胞性淋巴组织细胞增多症。他对类固醇有反应。硝基蓝四氮唑和二氢麦角胺-123测试证实了CGD。全外显子组测序发现NCF1缺失。他接受干扰素- γ、伏立康唑和甲氧苄啶-磺胺甲恶唑治疗。异体造血干细胞移植计划。本病例报告提高了对成人CGD的认识，旨在提高诊断和治疗策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Infectious diseases & clinical microbiology

自引率

0.00%

发文量